ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2251G>C (p.Gly751Arg) (rs63751119)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000680198 SCV000807662 likely pathogenic Lynch syndrome I 2018-06-13 reviewed by expert panel curation Same amino acid change as pathogenic variant
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508314 SCV000601463 likely pathogenic not provided 2018-12-10 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282624 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Located in potentially important domain of the protein. One other pathogenic or likely pathogenic variant affects the same amino acid. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Ambry Genetics RCV001014940 SCV001175716 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-19 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV001014940 SCV001348893 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-21 criteria provided, single submitter clinical testing

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